Living with Lowe Syndrome

Connor Gardiner is eleven and a half years old. He stands 4'1" in heels (please don't ask!), walks with his head tilted slightly to the side and wears spectacles holding lenses which, despite their thickness, will never be able to give him perfect eyesight. When he was born Connor, like all boys with Lowe Syndrome, had cataracts. As a consequence, the lens in both eyes were removed, and so begun his life.

When we first met at the 3rd December at the BoardFree event in Rushcutters Bay, Sydney, he was in a strange place, surrounded by strangers and full of agitated energy. Out of his element, Connor clung to two things which enabled him to feel happy. His Dad, Alex, cares for him almost full-time and often looked down to find his son wrapped around his waist. And then Connor met Elsa, my board. The two of them rolled around, colliding into ankles, emitting screams of pleasure and then, when it all became too much, Elsa hit the floor suffering what was to become her greatest injury of the Australian journey. Just a couple of inches of surface covering fell away - I won't deny I had a pang of disbelief when someone handed me the board! - but it revealed another side to Lowe Syndrome which I hadn't seen before.

Tha National Organisation for Rare Diseases defines Lowe with the following description: "Lowe Syndrome, also known as oculo-cerebro-renal syndrome, is a rare inherited metabolic disease that affects males. This disorder is characterized by lack of muscle tone (hypotonia), multiple abnormalities of the eyes and bones, the presence at birth of clouding of the lenses of the eyes (cataracts), mental retardation, short stature, and kidney problems. Other findings may include protrusion of the eyeball from the eye socket (enophthalmos); failure to gain weight and grow at the expected rate; weak or absent deep tendon reflexes; and multiple kidney problems (e.g., renal tubular dysfunction, renal hyperaminoaciduria, etc.)."

In reality boys with Lowe and their families are often a forgotten lot. Relatively few sufferers of Lowe exist (between 300-400 registered boys to date) and this means that the disease often slips through the wide open cracks of the Welfare State. Support, therefore, is not always forthcoming, Alex and Connor are just one example.

Until arriving back in Sydney after rolling into Brisbane, I hadn't spent more than a couple of hours in the presence of Lowe Syndrome. Connor displays the consistent copybook traits of a lad with Lowe. He's affectionate, loving, has a wicked sense of humour. Looking at him, it's easy to forget he's not far off twelve years old. His size alone makes him appear six or seven and his behaviour bounces from shouting and violent to loving and kind. One thing is constant: he never stops. I watch him eat and he can't focus on his meal. At breakfast he takes a spoonful and wanders off, changing TV channels and repositioning his radio, before returning for another bite. He rarely finishes a bowl and I can't comprehend how he maintains his energy levels for eleven hours a day, but for all the constant attention he demands he is a pleasure to be around. When he finds something funny he tilts his head back and gurgles a giggle, now and then he'll sit down beside Kate or Si or Dan and just be still. His inquisitive nature never ceases seeking for information. "Whadilly you do today?" "Where's Shiman [Simon]?" And sometimes he gives you love that you've never had before. On my first night in the house I was heading to bed. Connor held my hand as I walked upstairs and then, before I closed my door, he ran back in without a word, put his arms around me and kissed my hip, then ran away again.

Despite his affectionate, cheeky nature, he is hard work to live with, and I've just been here a week. His dad, Alex, loves him wholly and has the patience of a saint. Kate and I have tried to take some pressure off him, preparing Connor for school in the mornings, dressing him, getting breakfast down, standing hand in hand waiting for the bus. The bus arrives, Anton the driver gets out and leads Connor around to the sliding door. Other pupils are inside already, all suffering from some mental or physical disability. One of them, a girl wearing a wide brimmed black hat, waved to Kate, Si, Dan and I as we stood in the driveway bidding farewell to Connor. Connor was sat behind the girl and pounced on her arm. We all laughed. "He doesn't want anyone else to wave," Alex told us later. The next morning the same scenario, except Connor was now sat in front of the girl. She waves cautiously and then Connor turned, sensing some movement. Instantly the girl pulled her hand behind her head and feigned a scratch. She learned well! Connor stuck his arm out of the window and waggled it until the bus disappeared.

Kate offered to cook Alex and Connor dinner tonight. "Let me ride in the Ude [Ute]!" Connor asked, his hundredth request to take a drive in Cheech, my once on-the-road support vehicle. This time, he got his wish. Little eyes just peeking over the dashboard, he directed Kate to the supermarket in Strathfield and helped her pick out a parking spot. Walking to the shops, every car was a new interest, "what make is that one?" he pointed, then after passing a new car, he got cheeeky, "why would anyone buy your ute, it's old?!" Inside the supermarket, the fruit shelves gave Kate some headaches as Connor picked up each different fruit and veg, sniffed it (his poor eyesight means all new objects are sniffed to gain some familiarity) then offered a final assessment, either "Yum" or "Yuk!" A few grapes disappeared into his naughty little mouth, and Kate couldn't help but snigger when he grabbed a carrot, took a bite and then popped it back on the shelf!

I'd often wondered how I'd feel if I had a child with a disability. Completely removed from the reality of this - I'm not in the game of having kids just yet - I suppose the thought was based on an inate selfishness and love of freedom. How would I react at the birth? How would I deal with things? Would I put the child up for adoption? Seriously, I asked myself these questions from the safe vantage point of distance. Then, leaving Kate in bed to get some much needed sleep, I found myself dressing Connor, a half-hour process as he struggles and pretends to be a dog and cries and runs away. Right there and then, as Connor lay on his back and pounded the bed with fists and feet, it suddenly occurred to me that the questions I'd once asked myself were folly. Nothing really mattered, I realised. As I chuckled at Connor refusing to allow socks onto his feet, it struck me that if I had a child I would love he or she, no matter what. I love this kid with his thick glasses which he swaps for mine now and then, this lad who loves TV and has a brilliant fascination for his portable radio which he carries around the house and plugs in so people can listen to it. Admittedly, living with a boy with Lowe Syndrome probably isn't the best way to recuperate from a five month skateboarding journey, but I wouldn't have had it any other way. I'm going to miss the little fella and his Dad, and I'm looking forward to standing with Connor for one last time in the morning, holding his hand as the School Bus approaches over the hill, waiting to see what happens as everyone waves goodbye.

Please donate @ www.justgiving.com/boardfree